Canonical Allele Identifier: CA304236684
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs536021465
gnomAD v2: 19-2274676-GA-G
gnomAD v3: 19-2274677-GA-G
gnomAD v4: 19-2274677-GA-G
MyVariant Identifiers: chr19:g.2274677del (hg19) chr19:g.2274678del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274680del , CM000681.2:g.2274680del GRCh38
NC_000019.9:g.2274679del , CM000681.1:g.2274679del GRCh37
NC_000019.8:g.2225679del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*1002del MANE Select ENSP00000345102.3:n.*1002del
ENST00000342063.4:c.*1002del ENSP00000345102.3:n.*1002del
ENST00000621615.1:c.146+4936del ENSP00000481965.1:n.146+4936del
NM_198532.2:c.*1002del NP_940934.1:n.*1002del
NM_198532.3:c.*1002del MANE Select NP_940934.1:n.*1002del
Search 100 bp 5'
Search 100 bp 3'